SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS922847767 GABBR2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Neurodevelopmental disorder with poor language and loss of hand skills
RS922875803 FRAS1 Health Risk Likely pathogenic —
RS922887919 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS922905323 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS922908090 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS922927440 CWC27 Health Risk Pathogenic —
RS922930539 CFAP410 Health Risk Pathogenic/Likely pathogenic Axial spondylometaphyseal dysplasia, Retinal dystrophy with or without macular staphyloma
RS922934422 PNPLA1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS922956992 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS922968465 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS923033810 SYN1 Health Risk Likely pathogenic Epilepsy, X-linked 1
RS923040659 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS923052172 PTPN11 Health Risk Pathogenic PTPN11-related disorder, PTPN11-related disorder
RS923064561 IFIH1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS923086526 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS923100890 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS923109489 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS923129064 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS923135675 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS923165627 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS923188952 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS923192918 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS923197967 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Inborn genetic diseases
RS923308300 P2RY12 Health Risk Likely pathogenic P2RY12-related disorder, P2RY12-related disorder
RS923358109 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS923362391 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS923429610 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS923472334 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS923513392 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS923516953 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS923535659 ERCC6 Health Risk Pathogenic —
RS923543734 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS923581334 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS923607827 NSMF Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS923668514 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS923697621 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS923729821 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS923732649 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis, Mucolipidosis type II
RS923787197 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS923795184 FLNC Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Myofibrillar myopathy 5
RS923816827 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS923819811 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS923827293 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS923842695 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS923848175 LRTOMT Health Risk Conflicting classifications of pathogenicity —
RS923864884 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS923865420 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS923873445 OTOG Health Risk Pathogenic —
RS923904530 TTN Health Risk Conflicting classifications of pathogenicity —
RS923907091 PIGB Health Risk Pathogenic Developmental and epileptic encephalopathy, 80
RS923921184 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS923936131 AGR2 Health Risk Pathogenic Respiratory infections, recurrent
RS923953881 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS923973985 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS923984398 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Inborn genetic diseases
RS924068629 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS924080705 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS924098595 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS924099073 TUFM Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS924125081 RPL3L Health Risk Pathogenic Cardiomyopathy, dilated
RS924153704 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS924158571 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS924198007 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS924205965 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS924232072 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS924277966 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS924279167 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS924285282 ARHGDIA Health Risk Likely pathogenic Nephrotic syndrome, type 8
RS924297783 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS924305428 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Brugada syndrome 1
RS924321091 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS924419805 TTLL5 Health Risk Pathogenic —
RS924438731 GFM2 Health Risk Conflicting classifications of pathogenicity —
RS924461024 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS924484889 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS924495842 LTBP2 Health Risk Pathogenic Glaucoma 3, primary infantile
RS924516946 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS924517772 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS924519892 NEB Health Risk Pathogenic Nemaline myopathy 2, Inborn genetic diseases
RS924532501 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS924548467 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS924625340 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS924627806 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS924674737 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS924683894 SLC17A5 Health Risk Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
RS924692638 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS924692905 NYX Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS924740805 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS924743948 ELP1 Health Risk Pathogenic —
RS924744512 TULP3 Health Risk Pathogenic Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
RS924770060 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS924796934 SYNE4 Health Risk Pathogenic —
RS924831918 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS924845392 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS924923201 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS924975413 OGDHL Health Risk Likely pathogenic Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
RS925005242 ROBO1 Health Risk Pathogenic —
RS925016698 SORD Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS925044785 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS925062950 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
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